Incidental Mutation 'IGL02662:Sigirr'
| ID |
302604 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sigirr
|
| Ensembl Gene |
ENSMUSG00000025494 |
| Gene Name |
single immunoglobulin and toll-interleukin 1 receptor (TIR) domain |
| Synonyms |
Sigirr, Tir8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140671088-140680485 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 140674707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066873]
[ENSMUST00000097958]
[ENSMUST00000106039]
[ENSMUST00000209199]
[ENSMUST00000209294]
[ENSMUST00000210167]
[ENSMUST00000209352]
|
| AlphaFold |
Q9JLZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066873
|
| SMART Domains |
Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
228 |
N/A |
INTRINSIC |
|
ARM
|
350 |
390 |
8.11e-5 |
SMART |
|
ARM
|
392 |
432 |
3.24e-4 |
SMART |
|
ARM
|
489 |
536 |
3.85e0 |
SMART |
|
internal_repeat_1
|
605 |
702 |
2.91e-9 |
PROSPERO |
|
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097958
|
| SMART Domains |
Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
17 |
112 |
5.21e-2 |
SMART |
|
transmembrane domain
|
117 |
139 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
163 |
327 |
2.2e-19 |
PFAM |
|
Pfam:TIR_2
|
166 |
308 |
2.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106039
|
| SMART Domains |
Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
253 |
N/A |
INTRINSIC |
|
ARM
|
375 |
415 |
8.11e-5 |
SMART |
|
ARM
|
417 |
457 |
3.24e-4 |
SMART |
|
ARM
|
514 |
561 |
3.85e0 |
SMART |
|
internal_repeat_1
|
630 |
727 |
4.99e-9 |
PROSPERO |
|
low complexity region
|
742 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209294
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210978
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: When challenged, homozygous mutant mice show an increased inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,618,744 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
G |
A |
5: 142,462,644 (GRCm39) |
|
probably null |
Het |
| Cdhr5 |
T |
G |
7: 140,854,416 (GRCm39) |
I120L |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,456,588 (GRCm39) |
S975F |
probably damaging |
Het |
| Cts3 |
G |
T |
13: 61,715,871 (GRCm39) |
Q132K |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,216,698 (GRCm39) |
|
probably benign |
Het |
| Defb39 |
A |
G |
8: 19,102,891 (GRCm39) |
V68A |
probably benign |
Het |
| Dgki |
A |
G |
6: 36,839,421 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,904,783 (GRCm39) |
P867L |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 179,969,544 (GRCm39) |
|
probably benign |
Het |
| Glt28d2 |
T |
A |
3: 85,779,423 (GRCm39) |
I17F |
probably damaging |
Het |
| Gstm2 |
T |
C |
3: 107,892,378 (GRCm39) |
Y82C |
possibly damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,893 (GRCm39) |
L276* |
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,392,827 (GRCm39) |
D712G |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,927,551 (GRCm39) |
T289I |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,124 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,694 (GRCm39) |
S674P |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,557,218 (GRCm39) |
V841I |
probably benign |
Het |
| Or10a48 |
T |
C |
7: 108,424,952 (GRCm39) |
T85A |
probably benign |
Het |
| Or8i2 |
T |
C |
2: 86,852,346 (GRCm39) |
T181A |
probably benign |
Het |
| Pigx |
A |
G |
16: 31,906,201 (GRCm39) |
V40A |
probably damaging |
Het |
| Pla2g2d |
T |
G |
4: 138,506,006 (GRCm39) |
M5R |
possibly damaging |
Het |
| Ppa2 |
G |
T |
3: 133,073,644 (GRCm39) |
R234I |
probably damaging |
Het |
| Rbms1 |
A |
C |
2: 60,592,650 (GRCm39) |
L221R |
probably damaging |
Het |
| Rnasel |
C |
A |
1: 153,629,857 (GRCm39) |
N124K |
probably damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,513 (GRCm39) |
N366S |
possibly damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,671 (GRCm39) |
V152E |
probably damaging |
Het |
| Tlnrd1 |
C |
T |
7: 83,532,027 (GRCm39) |
V135M |
possibly damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,744 (GRCm39) |
L229S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,540,554 (GRCm39) |
V239A |
probably damaging |
Het |
| Tpd52 |
A |
T |
3: 9,009,775 (GRCm39) |
|
probably null |
Het |
| Trim16 |
T |
A |
11: 62,731,383 (GRCm39) |
L331Q |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,390 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,272 (GRCm39) |
D244V |
probably damaging |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,391 (GRCm39) |
D724E |
probably benign |
Het |
| Zfp563 |
T |
C |
17: 33,321,253 (GRCm39) |
W18R |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,763,142 (GRCm39) |
V347A |
probably benign |
Het |
|
| Other mutations in Sigirr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Sigirr
|
APN |
7 |
140,672,147 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02166:Sigirr
|
APN |
7 |
140,672,140 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0044:Sigirr
|
UTSW |
7 |
140,672,226 (GRCm39) |
splice site |
probably null |
|
|
R0081:Sigirr
|
UTSW |
7 |
140,671,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Sigirr
|
UTSW |
7 |
140,672,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0651:Sigirr
|
UTSW |
7 |
140,672,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0652:Sigirr
|
UTSW |
7 |
140,672,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2471:Sigirr
|
UTSW |
7 |
140,672,510 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3028:Sigirr
|
UTSW |
7 |
140,672,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4786:Sigirr
|
UTSW |
7 |
140,671,346 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4910:Sigirr
|
UTSW |
7 |
140,673,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Sigirr
|
UTSW |
7 |
140,672,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5861:Sigirr
|
UTSW |
7 |
140,671,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Sigirr
|
UTSW |
7 |
140,671,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Sigirr
|
UTSW |
7 |
140,673,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8076:Sigirr
|
UTSW |
7 |
140,671,785 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8266:Sigirr
|
UTSW |
7 |
140,671,662 (GRCm39) |
missense |
unknown |
|
|
R9726:Sigirr
|
UTSW |
7 |
140,672,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Sigirr
|
UTSW |
7 |
140,673,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0058:Sigirr
|
UTSW |
7 |
140,673,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation